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UnknownDominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Not available
S-EPMC4375419 | biostudies-literature
UnknownATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Not available
S-EPMC10319782 | biostudies-literature
UnknownDe novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Not available
S-EPMC5973976 | biostudies-literature
UnknownDeletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Not available
S-EPMC11637933 | biostudies-literature
UnknownThe CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Not available
S-EPMC8900827 | biostudies-literature
UnknownExpanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Not available
S-EPMC8631250 | biostudies-literature
UnknownMutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Not available
S-EPMC5278942 | biostudies-literature
UnknownSafety, uptake, and use of a dapivirine vaginal ring for HIV-1 prevention in African women (HOPE): an open-label, extension study.
Not available
S-EPMC8038210 | biostudies-literature
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